Intestinal malrotation: Difference between revisions
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{{short description|Congenital anomaly of rotation of the midgut}} |
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{{Infobox medical condition (new) |
{{Infobox medical condition (new) |
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| name = Intestinal malrotation |
| name = Intestinal malrotation |
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'''Intestinal malrotation''' is a [[congenital]] anomaly of rotation of the [[midgut]]. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called volvulus. |
'''Intestinal malrotation''' is a [[congenital]] anomaly of rotation of the [[midgut]]. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called [[volvulus]], in which cases emergency surgery is indicated.<ref name=":0">{{Cite journal |last=Srirampur |first=Srinivas |last2=Poyyamozhy |first2=Kavimozhy Ilakkiya |last3=Thanneeru |first3=Suresh Kumar |last4=Kumbha |first4=Nagarjuna |date=December 2022 |title=Neonatal versus postneonatal presentation of intestinal malrotation: A retrospective crosssectional study in a tertiary care hospital at Hyderabad, India |url= |journal=Asian Journal of Medical Sciences |volume=13 |issue=12 |pages=218–223 |doi=10.3126/ajms.v13i12.46460|doi-access=free }}</ref> Malrotation can refer to a spectrum of abnormal intestinal positioning, often including:{{citation needed|date=August 2020}} |
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Malrotation can refer to a spectrum of abnormal intestinal positioning, often including: |
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* The [[small intestine]] found predominantly on the right side of the [[abdomen]] |
* The [[small intestine]] found predominantly on the right side of the [[abdomen]] |
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* The [[cecum]] displaced from its usual position in the [[right lower quadrant]] into the [[epigastrium]] or right [[hypochondrium]] |
* The [[cecum]] displaced from its usual position in the [[right lower quadrant]] into the [[epigastrium]] or right [[hypochondrium]] |
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* An absent or displaced [[ligament of Treitz]] |
* An absent or displaced [[ligament of Treitz]] |
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* Fibrous peritoneal bands called [[ |
* Fibrous peritoneal bands called [[bands of Ladd]] running across the vertical portion of the [[duodenum]] |
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* An unusually narrow stalk-like [[ |
* An unusually narrow, stalk-like [[mesentery]] |
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The position of the intestines, narrow mesentery |
The position of the intestines, narrow mesentery and Ladd's bands can contribute to several severe gastrointestinal conditions. The narrow mesentery predisposes some cases of malrotation to midgut volvulus, a twisting of the entire small bowel that can obstruct the [[mesenteric]] blood vessels leading to intestinal [[ischemia]], [[necrosis]], and death if not promptly treated. The fibrous Ladd's bands can constrict the duodenum, leading to intestinal obstruction. |
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==Signs and symptoms== |
==Signs and symptoms== |
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Signs and symptoms of malrotation vary depending on |
Signs and symptoms of malrotation vary depending on age and whether the patient is suffering from an acute volvulus or experiencing chronic symptoms.{{citation needed|date=August 2020}} |
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* If the patient, most often |
* If the patient, most often neonatal, presents acutely with [[midgut volvulus]], it is usually manifested by [[bilious]] [[vomiting|emesis]], crampy abdominal pain, occasional GI haemorrhage, abdominal [[Abdominal distension|distention]], and in late cases, the passage of blood and [[mucus]] in their [[human feces|stools]].<ref name=":0" /> |
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* Patients with [[chronic (medicine)|chronic]], uncorrected or undiagnosed malrotation can have recurrent abdominal pain and vomiting. |
* Patients with [[chronic (medicine)|chronic]], uncorrected or undiagnosed malrotation can have recurrent abdominal pain and vomiting. |
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* Malrotation may be asymptomatic.<ref name=":1">{{Cite journal |last=Nguyen |first=Rosalynn K |last2=Crouse |first2=Ryan M |last3=Talbot |first3=Ethan A |last4=Allard-Picou |first4=Ayana K |date=June 2022 |title=Intestinal Malrotation in the Adult |url= |journal=The American surgeon |volume=88 |issue=6 |pages=1367–1368 |doi=10.1177/0003134820947406 |issn=1555-9823}}</ref> |
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* Malrotation may be asymptomatic. |
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* Postnatal presentation occurs with indistinct symptoms which can include abdominal migraine or pain, recurrent vomiting, failure to thrive, weight loss and other non-specific gastrointestinal issues.<ref name=":0" /> |
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* Adult presentation is often found due to symptoms associated with intestinal obstruction, ischaemia, and possibly necrosis, abdominal distention, elevated white blood cell count (particularly [[Leucocytes|leucocyte]] and [[neutrophil]] counts)<ref>{{Cite journal |last=Yan |first=Bing |last2=Zhang |first2=Kun |date=2023-12-01 |title=Midgut volvulus due to congenital intestinal malrotation with an ileal duplication cyst in an adult: An unusual case report |url=https://www.sciencedirect.com/science/article/pii/S101595842301326X |journal=Asian Journal of Surgery |volume=46 |issue=12 |pages=5815–5816 |doi=10.1016/j.asjsur.2023.08.160 |issn=1015-9584|doi-access=free }}</ref> |
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===Complications=== |
===Complications=== |
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Intestinal malrotation can lead to a number of disease manifestations and complications such as: |
Intestinal malrotation can lead to a number of disease manifestations and complications such as:{{citation needed|date=August 2020}} |
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* Acute midgut volvulus |
* Acute midgut volvulus |
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* Chronic midgut volvulus |
* Chronic midgut volvulus |
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* Acute duodenal obstruction |
* Acute duodenal obstruction |
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* Chronic duodenal obstruction |
* Chronic duodenal obstruction |
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* [[Short bowel syndrome]] |
* [[Short bowel syndrome]], in cases of volvulus with intestinal necrosis |
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* Death |
* Death, in cases of volvulus with pan-necrosis of the bowel, severe [[septic shock]] or [[hypovolemic shock]] |
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* [[Malabsorption]] |
* [[Malabsorption]] |
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* Chronic motility issues |
* Chronic [[Gastrointestinal_physiology#Motility|motility]] issues |
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* Internal herniation |
* Internal herniation |
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* [[Superior mesenteric artery syndrome]] |
* [[Superior mesenteric artery syndrome]] |
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==Causes== |
==Causes== |
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[[File:Intestinal rotation and herniation.png|thumb|upright=1.25|Diagram showing the process by which the intestine rotates and herniates during normal development. From panel A to B (left-sided views), the [[midgut]] loop rotates 90° in a counterclockwise direction, so that its position changes from [[midsagittal]] (A) to [[Transverse plane|transverse]] (B1). The small intestine forms loops (B2) and slides back into the abdomen (B3) during resolution of the hernia. Meanwhile, the [[cecum]] moves from the left to the right side, which represents the additional 180° counterclockwise rotation of the intestine (C, central view).<ref>{{cite journal | vauthors = Soffers JH, Hikspoors JP, Mekonen HK, Koehler SE, Lamers WH | title = The growth pattern of the human intestine and its mesentery | journal = BMC Developmental Biology | volume = 15 | issue = 1 | pages = 31 | date = August 2015 | pmid = 26297675 | pmc = 4546136 | doi = 10.1186/s12861-015-0081-x | doi-access = free }}</ref>]] |
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| ⚫ | The exact cause of intestinal malrotation is unknown. It is not definitively associated with a particular gene, but there is some evidence of recurrence in families.<ref name="pmid1519649">{{cite journal |vauthors=Stalker HJ, Chitayat D |title=Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation? |journal= |
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| ⚫ | The exact cause of intestinal malrotation is unknown. It is not definitively associated with a particular gene, but there is some evidence of recurrence in families.<ref name="pmid1519649">{{cite journal | vauthors = Stalker HJ, Chitayat D | title = Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation? | journal = American Journal of Medical Genetics | volume = 44 | issue = 1 | pages = 46–7 | date = September 1992 | pmid = 1519649 | doi = 10.1002/ajmg.1320440111 }}</ref> |
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==Diagnosis== |
==Diagnosis== |
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Malrotation is most often diagnosed during infancy, however, some cases are not discovered until later in childhood or even adulthood.<ref name="pmid12394439">{{cite journal |vauthors=Dietz DW, Walsh RM, Grundfest-Broniatowski S, Lavery IC, Fazio VW, Vogt DP |title=Intestinal malrotation: a rare but important cause of bowel obstruction in adults |journal= |
Malrotation is most often diagnosed during infancy, however, some cases are not discovered until later in childhood or even adulthood.<ref name="pmid12394439">{{cite journal | vauthors = Dietz DW, Walsh RM, Grundfest-Broniatowski S, Lavery IC, Fazio VW, Vogt DP | title = Intestinal malrotation: a rare but important cause of bowel obstruction in adults | journal = Diseases of the Colon and Rectum | volume = 45 | issue = 10 | pages = 1381–6 | date = October 2002 | pmid = 12394439 | doi = 10.1007/s10350-004-6429-0 | s2cid = 23269321 }}</ref><ref name=":1" /> |
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| ⚫ | |||
| ⚫ | In cases of volvulus, plain radiography may demonstrate signs of duodenal obstruction with dilatation of the proximal duodenum and stomach but it is often non-specific. Ultrasonography may be useful in some cases of volvulus, depicting a "whirlpool sign" where the [[superior mesenteric artery]] and [[superior mesenteric vein]] have twisted.<ref name="pmid10355892">{{cite journal | vauthors = Yeh WC, Wang HP, Chen C, Wang HH, Wu MS, Lin JT | title = Preoperative sonographic diagnosis of midgut malrotation with volvulus in adults: the "whirlpool" sign | journal = Journal of Clinical Ultrasound | volume = 27 | issue = 5 | pages = 279–83 | date = June 1999 | pmid = 10355892 | doi = 10.1002/(SICI)1097-0096(199906)27:5<279::AID-JCU8>3.0.CO;2-G }}</ref> |
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| ⚫ | |||
| ⚫ | [[Upper gastrointestinal series]] is the modality of choice for the evaluation of malrotation, as it will often show an abnormal position of the duodenum and duodeno-jejunal flexure ([[ligament of Treitz]]). In cases of malrotation complicated with volvulus, upper GI demonstrates a corkscrew appearance of the distal duodenum and jejunum. In cases of obstructing Ladd's bands, upper GI may reveal a duodenal obstruction. Although upper GI series is regarded as the most reliable diagnostic test for intestinal malrotation, false negatives may occur in 5% of cases.<ref name="pmid10355892"/> False negatives are most frequently attributed to radiographer error, uncooperative pediatric patients, or variations in intestinal positioning. In equivocal cases physicians may wish to repeat the upper GI or consider additional diagnostic modalities. [[Lower gastrointestinal series]], may be helpful in some patients by showing the [[caecum]] at an abnormal location. [[CT scan]] and [[magnetic resonance imaging]] may also aide in the diagnosis of equivocal cases.{{citation needed|date=August 2020}} |
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| ⚫ | In cases of volvulus, plain radiography may demonstrate signs of duodenal obstruction with dilatation of the proximal duodenum and stomach but it is often non-specific. Ultrasonography may be useful in some cases of volvulus, depicting a "whirlpool sign" where the [[superior mesenteric artery]] and [[ |
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The incidence of intestinal malrotation in infants with omphalocoele is low. Therefore, there is little evidence to support the screening for intestinal malrotation in infants with omphalocoele.<ref>{{Cite journal|last1=Lauriti|first1=Giuseppe|last2=Miscia|first2=Maria Enrica|last3=Cascini|first3=Valentina|last4=Chiesa|first4=Pierluigi Lelli|last5=Pierro|first5=Agostino|last6=Zani|first6=Augusto|date=March 2019|title=Intestinal malrotation in infants with omphalocele: A systematic review and meta-analysis|journal=Journal of Pediatric Surgery|volume=54|issue=3|pages=378–382|doi=10.1016/j.jpedsurg.2018.09.010|pmid=30309732|s2cid=52961238 |issn=0022-3468}}</ref> |
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| ⚫ | [[Upper gastrointestinal series]] is the modality of choice for the evaluation of malrotation, as it will often show an abnormal position of the duodenum and duodeno-jejunal flexure ([[ligament of Treitz]]). In cases of malrotation complicated with volvulus, upper GI demonstrates a corkscrew appearance of the distal duodenum and jejunum. In cases of obstructing Ladd's bands, upper GI may reveal a duodenal obstruction. Although upper GI series is regarded as the most reliable diagnostic test for intestinal malrotation, false negatives may occur in 5% of cases<ref name="pmid10355892" |
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==Treatment== |
==Treatment== |
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Prompt surgical treatment is necessary for intestinal malrotation when volvulus has occurred: |
Prompt surgical treatment is necessary for intestinal malrotation when volvulus has occurred:{{cn|date=May 2022}} |
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* First, the patient is resuscitated with fluids to stabilize them for surgery |
* First, the patient is resuscitated with fluids to stabilize them for surgery |
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* The volvulus is corrected (counterclockwise rotation of the bowel), |
* The volvulus is corrected (counterclockwise rotation of the bowel), |
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With this condition the appendix is often on the wrong side of the body and therefore removed as a precautionary measure during the surgical procedure. |
With this condition the appendix is often on the wrong side of the body and therefore removed as a precautionary measure during the surgical procedure. |
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This surgical technique is known as the "Ladd's procedure", after Dr. William Ladd.<ref>{{cite journal | |
This surgical technique is known as the "Ladd's procedure", after Dr. William Ladd.<ref>{{cite journal | vauthors = Ladd WE |title=Surgical Diseases of the Alimentary Tract in Infants |journal=N Engl J Med |volume=215 |issue=16 |pages=705–8 |year=1936 |doi=10.1056/NEJM193610152151604 }}</ref><ref name="pmid9498402">{{cite journal | vauthors = Bass KD, Rothenberg SS, Chang JH | title = Laparoscopic Ladd's procedure in infants with malrotation | journal = Journal of Pediatric Surgery | volume = 33 | issue = 2 | pages = 279–81 | date = February 1998 | pmid = 9498402 | doi = 10.1016/S0022-3468(98)90447-X }}</ref> Long-term research on the Ladd's procedure indicates that even after surgery, some patients are susceptible to GI issues and may need further surgery.<ref>{{cite journal | vauthors = Murphy FL, Sparnon AL | title = Long-term complications following intestinal malrotation and the Ladd's procedure: a 15 year review | journal = Pediatric Surgery International | volume = 22 | issue = 4 | pages = 326–9 | date = April 2006 | pmid = 16518597 | doi = 10.1007/s00383-006-1653-4 | s2cid = 22816456 }}</ref> |
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==See also== |
== See also == |
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*[[Situs inversus]], a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. |
* [[Situs inversus]], a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. |
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==References== |
== References == |
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{{reflist}} |
{{reflist}} |
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== External links == |
== External links == |
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{{Medical resources |
{{Medical resources |
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| DiseasesDB = |
| DiseasesDB = |
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| ICD10 = {{ICD10|Q|43|3|q|38}} |
| ICD10 = {{ICD10|Q|43|3|q|38}} |
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| ICD9 = {{ICD9|751.4}} |
| ICD9 = {{ICD9|751.4}} |
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| ICDO = |
| ICDO = |
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| OMIM = 193250 |
| OMIM = 193250 |
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| MedlinePlus = |
| MedlinePlus = |
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| eMedicineSubj = ped |
| eMedicineSubj = ped |
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| eMedicineTopic = 1200 |
| eMedicineTopic = 1200 |
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| MeshID = |
| MeshID = |
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}} |
}} |
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Latest revision as of 10:47, 15 January 2024
| Intestinal malrotation | |
|---|---|
| Specialty | Medical genetics  |
Intestinal malrotation is a congenital anomaly of rotation of the midgut. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called volvulus, in which cases emergency surgery is indicated.[1] Malrotation can refer to a spectrum of abnormal intestinal positioning, often including:[citation needed]
- The small intestine found predominantly on the right side of the abdomen
- The cecum displaced from its usual position in the right lower quadrant into the epigastrium or right hypochondrium
- An absent or displaced ligament of Treitz
- Fibrous peritoneal bands called bands of Ladd running across the vertical portion of the duodenum
- An unusually narrow, stalk-like mesentery
The position of the intestines, narrow mesentery and Ladd's bands can contribute to several severe gastrointestinal conditions. The narrow mesentery predisposes some cases of malrotation to midgut volvulus, a twisting of the entire small bowel that can obstruct the mesenteric blood vessels leading to intestinal ischemia, necrosis, and death if not promptly treated. The fibrous Ladd's bands can constrict the duodenum, leading to intestinal obstruction.
Signs and symptoms
[edit]Signs and symptoms of malrotation vary depending on age and whether the patient is suffering from an acute volvulus or experiencing chronic symptoms.[citation needed]
- If the patient, most often neonatal, presents acutely with midgut volvulus, it is usually manifested by bilious emesis, crampy abdominal pain, occasional GI haemorrhage, abdominal distention, and in late cases, the passage of blood and mucus in their stools.[1]
- Patients with chronic, uncorrected or undiagnosed malrotation can have recurrent abdominal pain and vomiting.
- Malrotation may be asymptomatic.[2]
- Postnatal presentation occurs with indistinct symptoms which can include abdominal migraine or pain, recurrent vomiting, failure to thrive, weight loss and other non-specific gastrointestinal issues.[1]
- Adult presentation is often found due to symptoms associated with intestinal obstruction, ischaemia, and possibly necrosis, abdominal distention, elevated white blood cell count (particularly leucocyte and neutrophil counts)[3]
Complications
[edit]Intestinal malrotation can lead to a number of disease manifestations and complications such as:[citation needed]
- Acute midgut volvulus
- Chronic midgut volvulus
- Acute duodenal obstruction
- Chronic duodenal obstruction
- Short bowel syndrome, in cases of volvulus with intestinal necrosis
- Death, in cases of volvulus with pan-necrosis of the bowel, severe septic shock or hypovolemic shock
- Malabsorption
- Chronic motility issues
- Internal herniation
- Superior mesenteric artery syndrome
Causes
[edit]
The exact cause of intestinal malrotation is unknown. It is not definitively associated with a particular gene, but there is some evidence of recurrence in families.[5]
Diagnosis
[edit]Malrotation is most often diagnosed during infancy, however, some cases are not discovered until later in childhood or even adulthood.[6][2]
With acutely ill patients, consider emergency surgery laparotomy if there is a high index of suspicion.[citation needed]
In cases of volvulus, plain radiography may demonstrate signs of duodenal obstruction with dilatation of the proximal duodenum and stomach but it is often non-specific. Ultrasonography may be useful in some cases of volvulus, depicting a "whirlpool sign" where the superior mesenteric artery and superior mesenteric vein have twisted.[7]
Upper gastrointestinal series is the modality of choice for the evaluation of malrotation, as it will often show an abnormal position of the duodenum and duodeno-jejunal flexure (ligament of Treitz). In cases of malrotation complicated with volvulus, upper GI demonstrates a corkscrew appearance of the distal duodenum and jejunum. In cases of obstructing Ladd's bands, upper GI may reveal a duodenal obstruction. Although upper GI series is regarded as the most reliable diagnostic test for intestinal malrotation, false negatives may occur in 5% of cases.[7] False negatives are most frequently attributed to radiographer error, uncooperative pediatric patients, or variations in intestinal positioning. In equivocal cases physicians may wish to repeat the upper GI or consider additional diagnostic modalities. Lower gastrointestinal series, may be helpful in some patients by showing the caecum at an abnormal location. CT scan and magnetic resonance imaging may also aide in the diagnosis of equivocal cases.[citation needed]
The incidence of intestinal malrotation in infants with omphalocoele is low. Therefore, there is little evidence to support the screening for intestinal malrotation in infants with omphalocoele.[8]
Treatment
[edit]Prompt surgical treatment is necessary for intestinal malrotation when volvulus has occurred:[citation needed]
- First, the patient is resuscitated with fluids to stabilize them for surgery
- The volvulus is corrected (counterclockwise rotation of the bowel),
- The fibrous Ladd's bands over the duodenum are cut,
- The mesenteric pedicle is widened by separation of the duodenum and cecum,
- The small and large bowels are placed in a position that reduces their risk of future volvulus
With this condition the appendix is often on the wrong side of the body and therefore removed as a precautionary measure during the surgical procedure.
This surgical technique is known as the "Ladd's procedure", after Dr. William Ladd.[9][10] Long-term research on the Ladd's procedure indicates that even after surgery, some patients are susceptible to GI issues and may need further surgery.[11]
See also
[edit]- Situs inversus, a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions.
References
[edit]- ^ a b c Srirampur, Srinivas; Poyyamozhy, Kavimozhy Ilakkiya; Thanneeru, Suresh Kumar; Kumbha, Nagarjuna (December 2022). "Neonatal versus postneonatal presentation of intestinal malrotation: A retrospective crosssectional study in a tertiary care hospital at Hyderabad, India". Asian Journal of Medical Sciences. 13 (12): 218–223. doi:10.3126/ajms.v13i12.46460.
- ^ a b Nguyen, Rosalynn K; Crouse, Ryan M; Talbot, Ethan A; Allard-Picou, Ayana K (June 2022). "Intestinal Malrotation in the Adult". The American surgeon. 88 (6): 1367–1368. doi:10.1177/0003134820947406. ISSN 1555-9823.
- ^ Yan, Bing; Zhang, Kun (2023-12-01). "Midgut volvulus due to congenital intestinal malrotation with an ileal duplication cyst in an adult: An unusual case report". Asian Journal of Surgery. 46 (12): 5815–5816. doi:10.1016/j.asjsur.2023.08.160. ISSN 1015-9584.
- ^ Soffers JH, Hikspoors JP, Mekonen HK, Koehler SE, Lamers WH (August 2015). "The growth pattern of the human intestine and its mesentery". BMC Developmental Biology. 15 (1): 31. doi:10.1186/s12861-015-0081-x. PMC 4546136. PMID 26297675.
- ^ Stalker HJ, Chitayat D (September 1992). "Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation?". American Journal of Medical Genetics. 44 (1): 46–7. doi:10.1002/ajmg.1320440111. PMID 1519649.
- ^ Dietz DW, Walsh RM, Grundfest-Broniatowski S, Lavery IC, Fazio VW, Vogt DP (October 2002). "Intestinal malrotation: a rare but important cause of bowel obstruction in adults". Diseases of the Colon and Rectum. 45 (10): 1381–6. doi:10.1007/s10350-004-6429-0. PMID 12394439. S2CID 23269321.
- ^ a b Yeh WC, Wang HP, Chen C, Wang HH, Wu MS, Lin JT (June 1999). "Preoperative sonographic diagnosis of midgut malrotation with volvulus in adults: the "whirlpool" sign". Journal of Clinical Ultrasound. 27 (5): 279–83. doi:10.1002/(SICI)1097-0096(199906)27:5<279::AID-JCU8>3.0.CO;2-G. PMID 10355892.
- ^ Lauriti, Giuseppe; Miscia, Maria Enrica; Cascini, Valentina; Chiesa, Pierluigi Lelli; Pierro, Agostino; Zani, Augusto (March 2019). "Intestinal malrotation in infants with omphalocele: A systematic review and meta-analysis". Journal of Pediatric Surgery. 54 (3): 378–382. doi:10.1016/j.jpedsurg.2018.09.010. ISSN 0022-3468. PMID 30309732. S2CID 52961238.
- ^ Ladd WE (1936). "Surgical Diseases of the Alimentary Tract in Infants". N Engl J Med. 215 (16): 705–8. doi:10.1056/NEJM193610152151604.
- ^ Bass KD, Rothenberg SS, Chang JH (February 1998). "Laparoscopic Ladd's procedure in infants with malrotation". Journal of Pediatric Surgery. 33 (2): 279–81. doi:10.1016/S0022-3468(98)90447-X. PMID 9498402.
- ^ Murphy FL, Sparnon AL (April 2006). "Long-term complications following intestinal malrotation and the Ladd's procedure: a 15 year review". Pediatric Surgery International. 22 (4): 326–9. doi:10.1007/s00383-006-1653-4. PMID 16518597. S2CID 22816456.